Dupuy O, Palou M, Mayaudon H, Sarret D, Bordier L, Garcin J M, Bauduceau B
Service d'Endocrinologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.
Presse Med. 2001 Mar 3;30(8):369-72.
The De La Chapelle syndrome (XX male) is a peripheral hypogonadism concerning males with 46,XX karyotype. We conducted a retrospective study of 18 cases and report the main clinical biological and hormonal characteristics.
Clinical features (weight, height, aspect of the external genital organs, body hair, gynecomastia), hormone levels (testosterone, gonadotrophin, baseline and stimulated prolactin estradiol), and results of a Barr test and karyotype were recorded in all patients in addition to search for the SRY gene (in 8 of the 18 patients). Findings were compared with a matched male population and a Klinefelter syndrome population.
Microrchidia was found in almost all the patients while the penis had a normal size. Signs of hypoandrogenism were frequent and gynecomastia was present in half the cases. De La Chapelle patients differed from Klinefelter patients by the absence of dysmorphism.
Patients with De La Chapelle syndrome diagnosed around the age of 20 years do not have borderline disorders associating genitalia anomalies or sexual ambiguity. The majority of the patients bear the testis determining SRY gene on one of the X chromosomes, providing the rational explanation of the male phenotype, but 20% of the XX males doe not have this gene. The role of certain key genes that could be implicated in abnormal sexual differentiation is known, but the complexity and heterogeneous nature of this syndrome leaves many questions unanswered. Therapy is based on androgen replacement therapy given at an early stage.
德拉夏佩勒综合征（XX男性）是一种与46,XX核型男性相关的外周性腺功能减退症。我们对18例病例进行了回顾性研究，并报告了主要的临床生物学和激素特征。
记录了所有患者的临床特征（体重、身高、外生殖器外观、体毛、乳腺增生）、激素水平（睾酮、促性腺激素、基础及刺激后的催乳素、雌二醇）、巴氏试验结果和核型，此外还对18例患者中的8例进行了SRY基因检测。将研究结果与匹配的男性人群和克兰费尔特综合征人群进行比较。
几乎所有患者均存在小睾丸，而阴茎大小正常。雄激素缺乏的体征很常见，半数病例存在乳腺增生。德拉夏佩勒综合征患者与克兰费尔特综合征患者的不同之处在于不存在畸形。
在20岁左右被诊断出患有德拉夏佩勒综合征的患者不存在伴有生殖器异常或性模糊的临界疾病。大多数患者在其中一条X染色体上携带睾丸决定基因SRY，这为男性表型提供了合理的解释，但20%的XX男性没有该基因。已知某些关键基因可能与异常性分化有关，但其作用尚不清楚，而且该综合征的复杂性和异质性仍留下许多未解之谜。治疗基于早期给予雄激素替代疗法。
